Incidental Mutation 'IGL03068:Cfap52'
ID 409786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cfap52
Ensembl Gene ENSMUSG00000020904
Gene Name cilia and flagella associated protein 52
Synonyms Wdr16, 4933417B11Rik, 1700019F09Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.772) question?
Stock # IGL03068
Quality Score
Status
Chromosome 11
Chromosomal Location 67815632-67856477 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 67826682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 381 (D381G)
Ref Sequence ENSEMBL: ENSMUSP00000021287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021287] [ENSMUST00000126766]
AlphaFold Q5F201
Predicted Effect probably benign
Transcript: ENSMUST00000021287
AA Change: D381G

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021287
Gene: ENSMUSG00000020904
AA Change: D381G

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
WD40 321 360 6.6e1 SMART
WD40 363 402 8.56e0 SMART
WD40 405 445 2.27e-3 SMART
WD40 450 489 3.14e-6 SMART
WD40 492 530 9.21e0 SMART
WD40 533 573 6.19e-5 SMART
WD40 576 615 2.15e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123900
Predicted Effect probably benign
Transcript: ENSMUST00000126766
SMART Domains Protein: ENSMUSP00000116496
Gene: ENSMUSG00000020904

DomainStartEndE-ValueType
WD40 53 97 3.71e-1 SMART
WD40 100 141 3.45e-3 SMART
WD40 149 186 1.03e1 SMART
Blast:WD40 190 233 4e-12 BLAST
low complexity region 262 273 N/A INTRINSIC
WD40 280 318 9.86e1 SMART
Blast:WD40 321 342 1e-6 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142929
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD repeat-containing proteins, such as WDR16, play crucial roles in a wide range of physiologic functions, including signal transduction, RNA processing, remodeling the cytoskeleton, regulation of vesicular traffic, and cell division (Silva et al., 2005 [PubMed 15967112]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago3 A G 4: 126,311,171 (GRCm39) L14P probably damaging Het
Ak2 G T 4: 128,901,819 (GRCm39) probably benign Het
Appbp2 T C 11: 85,092,246 (GRCm39) Y311C probably damaging Het
Arl9 C A 5: 77,155,225 (GRCm39) L119I possibly damaging Het
Atp1a1 T C 3: 101,491,175 (GRCm39) H620R probably benign Het
Cngb3 T C 4: 19,375,246 (GRCm39) F292S possibly damaging Het
Comtd1 G A 14: 21,897,711 (GRCm39) R203C probably damaging Het
Crmp1 G T 5: 37,422,633 (GRCm39) A147S possibly damaging Het
Csmd3 T A 15: 47,710,517 (GRCm39) H1586L possibly damaging Het
Ctnna1 G A 18: 35,382,785 (GRCm39) E644K possibly damaging Het
Dock3 T C 9: 106,841,958 (GRCm39) D957G possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eefsec G T 6: 88,235,209 (GRCm39) Q576K probably benign Het
Efcab5 T A 11: 76,994,927 (GRCm39) I1215L probably benign Het
Etfa A T 9: 55,394,766 (GRCm39) D160E probably benign Het
Exoc7 G A 11: 116,191,960 (GRCm39) R197C possibly damaging Het
G6pc1 A G 11: 101,261,576 (GRCm39) D92G probably benign Het
Gm3182 T A 14: 4,483,921 (GRCm38) probably null Het
Gm4952 A G 19: 12,601,068 (GRCm39) N96S probably damaging Het
Gpr156 G A 16: 37,812,491 (GRCm39) V276M probably damaging Het
Irs2 A G 8: 11,054,974 (GRCm39) S1153P probably damaging Het
Kif21b T C 1: 136,086,093 (GRCm39) probably benign Het
Lmo7 A T 14: 102,112,928 (GRCm39) probably benign Het
Mapk4 G T 18: 74,103,415 (GRCm39) N31K probably damaging Het
Mccc2 T C 13: 100,100,319 (GRCm39) T357A probably damaging Het
Mpeg1 A G 19: 12,439,570 (GRCm39) T343A probably benign Het
Myo3b G T 2: 70,257,160 (GRCm39) probably benign Het
Pald1 T C 10: 61,156,963 (GRCm39) E829G possibly damaging Het
Pde11a A G 2: 75,848,208 (GRCm39) I873T probably damaging Het
Samd9l T A 6: 3,375,348 (GRCm39) K638* probably null Het
Sema4d A G 13: 51,862,922 (GRCm39) S479P probably damaging Het
Slc12a2 T C 18: 58,037,407 (GRCm39) probably benign Het
Slc47a2 T C 11: 61,194,769 (GRCm39) N470S probably damaging Het
Spag17 C T 3: 99,987,521 (GRCm39) P1604S probably benign Het
Taf8 C A 17: 47,812,290 (GRCm39) V39L probably damaging Het
Tlr11 A G 14: 50,598,941 (GRCm39) E309G probably benign Het
Tmem260 A G 14: 48,724,371 (GRCm39) probably benign Het
Tsc1 A T 2: 28,571,270 (GRCm39) K816M probably damaging Het
Ttc29 A G 8: 79,052,180 (GRCm39) I354V probably benign Het
Ttll3 A T 6: 113,386,158 (GRCm39) N665Y probably damaging Het
Ubr4 A G 4: 139,137,041 (GRCm39) T971A probably benign Het
Vmn2r96 T A 17: 18,803,137 (GRCm39) I349N probably benign Het
Vwa5a A G 9: 38,646,143 (GRCm39) T504A probably benign Het
Ythdf3 T A 3: 16,258,882 (GRCm39) V354E possibly damaging Het
Zan C A 5: 137,474,677 (GRCm39) G13V probably damaging Het
Other mutations in Cfap52
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01758:Cfap52 APN 11 67,844,406 (GRCm39) missense possibly damaging 0.67
IGL02034:Cfap52 APN 11 67,837,118 (GRCm39) splice site probably null
IGL02530:Cfap52 APN 11 67,845,007 (GRCm39) splice site probably benign
IGL02558:Cfap52 APN 11 67,844,964 (GRCm39) missense probably benign 0.31
IGL02873:Cfap52 APN 11 67,822,608 (GRCm39) missense probably damaging 1.00
IGL02887:Cfap52 APN 11 67,844,341 (GRCm39) missense probably damaging 1.00
IGL02956:Cfap52 APN 11 67,844,901 (GRCm39) missense probably benign
IGL03216:Cfap52 APN 11 67,844,932 (GRCm39) missense possibly damaging 0.81
IGL03287:Cfap52 APN 11 67,826,802 (GRCm39) unclassified probably benign
IGL03370:Cfap52 APN 11 67,829,881 (GRCm39) missense probably damaging 0.98
chewbacca UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0103:Cfap52 UTSW 11 67,815,951 (GRCm39) missense possibly damaging 0.95
R0244:Cfap52 UTSW 11 67,817,208 (GRCm39) missense possibly damaging 0.90
R0306:Cfap52 UTSW 11 67,844,896 (GRCm39) missense probably benign
R0364:Cfap52 UTSW 11 67,844,436 (GRCm39) missense possibly damaging 0.80
R0440:Cfap52 UTSW 11 67,844,914 (GRCm39) missense probably benign
R0565:Cfap52 UTSW 11 67,840,425 (GRCm39) missense probably benign 0.00
R1068:Cfap52 UTSW 11 67,829,830 (GRCm39) missense probably benign 0.10
R1082:Cfap52 UTSW 11 67,815,998 (GRCm39) missense probably damaging 0.99
R1509:Cfap52 UTSW 11 67,829,819 (GRCm39) missense probably benign 0.00
R1894:Cfap52 UTSW 11 67,844,445 (GRCm39) critical splice acceptor site probably null
R2994:Cfap52 UTSW 11 67,830,617 (GRCm39) missense probably benign
R3954:Cfap52 UTSW 11 67,821,691 (GRCm39) missense probably benign
R4611:Cfap52 UTSW 11 67,817,247 (GRCm39) missense probably damaging 0.99
R4922:Cfap52 UTSW 11 67,822,548 (GRCm39) critical splice donor site probably null
R5624:Cfap52 UTSW 11 67,818,184 (GRCm39) missense possibly damaging 0.92
R5762:Cfap52 UTSW 11 67,844,947 (GRCm39) missense possibly damaging 0.71
R5970:Cfap52 UTSW 11 67,821,570 (GRCm39) missense probably damaging 1.00
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6037:Cfap52 UTSW 11 67,837,126 (GRCm39) missense probably benign 0.00
R6260:Cfap52 UTSW 11 67,829,780 (GRCm39) missense possibly damaging 0.85
R7401:Cfap52 UTSW 11 67,840,459 (GRCm39) missense probably benign 0.02
R7580:Cfap52 UTSW 11 67,837,146 (GRCm39) missense probably damaging 1.00
R7831:Cfap52 UTSW 11 67,826,782 (GRCm39) missense possibly damaging 0.89
R7966:Cfap52 UTSW 11 67,844,571 (GRCm39) splice site probably null
R8303:Cfap52 UTSW 11 67,830,621 (GRCm39) missense probably benign 0.00
R8998:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R8999:Cfap52 UTSW 11 67,818,137 (GRCm39) missense probably damaging 1.00
R9074:Cfap52 UTSW 11 67,822,656 (GRCm39) missense probably benign 0.32
R9169:Cfap52 UTSW 11 67,844,860 (GRCm39) missense possibly damaging 0.67
R9394:Cfap52 UTSW 11 67,815,921 (GRCm39) makesense probably null
R9645:Cfap52 UTSW 11 67,837,179 (GRCm39) missense possibly damaging 0.68
R9683:Cfap52 UTSW 11 67,822,639 (GRCm39) missense probably benign 0.00
Posted On 2016-08-02